ERMARD

Chr 6AD

ER membrane associated RNA degradation

Also known as: C6orf70, PVNH6, dJ266L20.3

NCBI Gene: 55780ENSG00000130023UniProt: Q5T6L9OMIM: 615532

This endoplasmic reticulum membrane protein with two transmembrane domains is required for proper neuronal migration during brain development. Mutations cause periventricular nodular heterotopia-6 (PVNH6), a malformation where neurons fail to migrate from the ventricular zone and form nodules along the lateral ventricles, inherited in an autosomal dominant pattern.

OMIMResearchSummary from RefSeq, OMIM, UniProt
LOFmechanismADLOEUF 1.021 OMIM phenotype
Clinical Summary— ERMARD
🧬
Gene-Disease Validity (ClinGen)
periventricular nodular heterotopia · ADLimited

Limited evidence — not for standalone diagnostic reporting

⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.02LOEUF
pLI 0.000
Z-score 1.44
OE 0.75 (0.56–1.02)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-0.32Z-score
OE missense 1.05 (0.96–1.14)
384 obs / 366.8 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.75 (0.56–1.02)
0≤0.351.4
Missense OE1.05 (0.96–1.14)
0≤0.61.4
Synonymous OE1.04
0≤1.21.6
LoF obs/exp: 29 / 38.6Missense obs/exp: 384 / 366.8Syn Z: -0.40

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ERMARD · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Genotype-Phenotype Correlations for Putative Haploinsufficient Genes in Deletions of 6q26-q27: Report of Eight Patients and Review of Literature
Xie X et al.·Glob Med Genet
2022Review
Generation of two isogenic patient-derived human-induced pluripotent stem cell clones with 6q27 deletion.
Bianchini L et al.·Stem Cell Res
2024
Compound heterozygous variants in LAMC3 in association with posterior periventricular nodular heterotopia
De Angelis C et al.·BMC Med Genomics
2021
Detection and Visualization of Heterozygosity-Rich Regions and Runs of Homozygosity in Worldwide Sheep Populations
Selli A et al.·Animals (Basel)
2021
The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature: a prominent role for DLL1
Engwerda A et al.·Orphanet J Rare Dis
2023Cohort
Top 5 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

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External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients